rs6688832
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs6688832(A;A) |
| Make rs6688832(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 9263851 |
| Gene | H6PD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6688832 |
| dbSNP (classic) | rs6688832 |
| ClinGen | rs6688832 |
| ebi | rs6688832 |
| HLI | rs6688832 |
| Exac | rs6688832 |
| Gnomad | rs6688832 |
| Varsome | rs6688832 |
| LitVar | rs6688832 |
| Map | rs6688832 |
| PheGenI | rs6688832 |
| Biobank | rs6688832 |
| 1000 genomes | rs6688832 |
| hgdp | rs6688832 |
| ensembl | rs6688832 |
| geneview | rs6688832 |
| scholar | rs6688832 |
| rs6688832 | |
| pharmgkb | rs6688832 |
| gwascentral | rs6688832 |
| openSNP | rs6688832 |
| 23andMe | rs6688832 |
| SNPshot | rs6688832 |
| SNPdbe | rs6688832 |
| MSV3d | rs6688832 |
| GWAS Ctlg | rs6688832 |
| GMAF | 0.3636 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs6688832(A;A) rs6688832(C;C) |
| Alt | rs6688832(A;A) rs6688832(C;C) |
| Reference | Rs6688832(G;G) |
| Significance | Unknown |
| Disease | Cortisone reductase deficiency 1 |
| Variation | info |
| Gene | H6PD |
| CLNDBN | Cortisone reductase deficiency 1 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.9323910G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017511.2, |
[PMID 16817821] Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.
[PMID 18288507
] Structural genomic variation in ischemic stroke.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 22306327] The R453Q and D151A polymorphisms of hexose-6-phosphate dehydrogenase gene (H6PD) influence the polycystic ovary syndrome (PCOS) and obesity.
